Variant report

Variant	rs7313914
Chromosome Location	chr12:85864005-85864006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12298356	0.81[AFR][1000 genomes]
rs12319451	0.81[AFR][1000 genomes]
rs1355644	1.00[AMR][1000 genomes]
rs1512730	1.00[AMR][1000 genomes]
rs1512731	0.81[AFR][1000 genomes]
rs1567713	1.00[AMR][1000 genomes]
rs17012815	1.00[AMR][1000 genomes]
rs17012840	1.00[AMR][1000 genomes]
rs17012883	1.00[AMR][1000 genomes]
rs7296625	0.83[AFR][1000 genomes]
rs7304442	1.00[AMR][1000 genomes]
rs7305581	0.81[AFR][1000 genomes]
rs7307163	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7968445	0.81[AFR][1000 genomes]
rs9669744	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv817242	chr12:85622245-86069213	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1053044	chr12:85843030-85942504	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1036617	chr12:85855093-86010549	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85862400-85871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:85863000-85864200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:85863000-85864200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:85863000-85873000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:85863000-85874800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:85863200-85864200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:85863800-85864200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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